rs28723387 Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant: rs28723387 -  Homo sapiens

RGD ID: 14742824
RS ID: rs28723387
ClinVar ID: CV662853
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EZH2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 148,543,753
GRCh38 7 148,846,661
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_004456.5:c.118-63G>A
NM_001203247.2:c.118-63G>A
NM_001203248.2:c.118-63G>A
NM_001203249.2:c.118-63G>A
More...
06/14/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:EZH2
Accession:XM_047419996
Location:5UTRS;INTRON

Gene Symbol:EZH2
Accession:XM_011515889
Location:5UTRS;INTRON

Gene Symbol:EZH2
Accession:XM_047419995
Location:5UTRS;INTRON

Gene Symbol:EZH2
Accession:XM_011515883
Location:INTRON

Gene Symbol:EZH2
Accession:XM_047419994
Location:INTRON

Gene Symbol:EZH2
Accession:XM_047420008
Location:INTRON

Gene Symbol:EZH2
Accession:XM_047419989
Location:INTRON

Gene Symbol:EZH2
Accession:XM_005249962
Location:INTRON

Gene Symbol:EZH2
Accession:XM_047419999
Location:INTRON

Gene Symbol:EZH2
Accession:XM_047419998
Location:INTRON

Gene Symbol:EZH2
Accession:XM_005249964
Location:INTRON

Gene Symbol:EZH2
Accession:XM_047420004
Location:INTRON

Gene Symbol:EZH2
Accession:XM_047420001
Location:INTRON

Gene Symbol:EZH2
Accession:XM_047419997
Location:INTRON

Gene Symbol:EZH2
Accession:XM_047419992
Location:INTRON

Gene Symbol:EZH2
Accession:XM_047420009
Location:INTRON

Gene Symbol:EZH2
Accession:NM_152998
Location:INTRON

Gene Symbol:EZH2
Accession:NM_001203247
Location:INTRON

Gene Symbol:EZH2
Accession:XM_017011819
Location:INTRON

Gene Symbol:EZH2
Accession:XM_011515894
Location:INTRON

Gene Symbol:EZH2
Accession:XM_011515890
Location:INTRON

Gene Symbol:EZH2
Accession:XM_047420002
Location:INTRON

Gene Symbol:EZH2
Accession:XM_011515899
Location:INTRON

Gene Symbol:EZH2
Accession:XM_017011817
Location:INTRON

Gene Symbol:EZH2
Accession:XM_047420005
Location:INTRON

Gene Symbol:EZH2
Accession:NM_001203248
Location:INTRON

Gene Symbol:EZH2
Accession:XM_017011820
Location:INTRON

Gene Symbol:EZH2
Accession:XM_047420007
Location:INTRON

Gene Symbol:EZH2
Accession:XM_011515893
Location:INTRON

Gene Symbol:EZH2
Accession:XM_047419990
Location:INTRON

Gene Symbol:EZH2
Accession:XM_047420000
Location:INTRON

Gene Symbol:EZH2
Accession:NM_004456
Location:INTRON

Gene Symbol:EZH2
Accession:XM_011515887
Location:INTRON

Gene Symbol:EZH2
Accession:XM_011515885
Location:INTRON

Gene Symbol:EZH2
Accession:XM_011515892
Location:INTRON

Gene Symbol:EZH2
Accession:XM_047419991
Location:INTRON

Gene Symbol:EZH2
Accession:XM_005249963
Location:INTRON

Gene Symbol:EZH2
Accession:XM_011515901
Location:INTRON

Gene Symbol:EZH2
Accession:XM_047419993
Location:INTRON

Gene Symbol:EZH2
Accession:NM_001203249
Location:INTRON

Gene Symbol:EZH2
Accession:XM_011515895
Location:INTRON

Gene Symbol:EZH2
Accession:XM_011515896
Location:INTRON

Gene Symbol:EZH2
Accession:XM_047420006
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000841651 CLINVAR
dbSNP (RS) rs28723387 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene EZH2 CLINVAR
OMIM 601573 CLINVAR